[MIM 170 100]

(Hyperiminodipeptiduria)

Prevalence: 1 to 2 cases/106. Especially in populations where there is high rate of inbreeding, such as the Amish and the Druze. Autosomal recessive transmission of a mutation of gene PEPD  on 19P13.2. This gene codes for prolidase, an essential metalloproteinase in the catabolism of iminodipeptides containing proline or hydroxyproline in C. It especially affects the metabolism of collagen and produces necrotic lesions in some tissues.

The clinical picture is variable:

-        ulceronecrotic skin lesions: face, palms, lower limbs

-        splenomegaly

-        frequent pulmonary infections, bronchiectasies, cystic lesions: many patients die from respiratory failure

-        osteopenia, joint injuries

-        moderate to severe mental retardation

-        facial dysmorphy: saddle nose, hypertelorism, low hairline, hirsutism, arched or cleft palate, micrognathia or mandibular protrusion.

-        sometimes: association with systemic lupus erythematosus (clinical or biological) or hyperIgE syndrome

Anesthetic implications:

check total blood count (hypersplenism ?) and respiratory function; risk of difficult intubation  if micrognathia or mandibular protrusion

References :

-        Marotte H, Gineyts E, Miossec P.
Le déficit en prolidase : une cause rare de polyarthrite.
Revue du Rhumatisme 2010 ; 77 :111-2

-        Nir V, Llivitky A, Hakim F, Yoseph RB et al.
Pulmonary manifestations of prolidase deficiency.
Pediatr Pulmonol 2016 ; 51 :1229-33

-        Tasar R, Bergmann PA, Anemüller W, Herz A, Neis P, Mailänder P.
Bilateral compartment of the hands in prolidase deficiency syndrome.
J Pediatr Surg Case Reports 2021 ; 72 :101912

Updated: September 2021